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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Roberts syndrome
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Accession:DOID:5325 term browser browse the term
Definition:A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in ESCO2 on chromosome 8p21.1. (DO)
Comment:GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome, not a distinct disease (DO)
Synonyms:exact_synonym: Appelt-Gerken-Lenz syndrome;   RBS;   Roberts-SC phocomelia syndrome;   SC phocomelia syndrome;   SC pseudothalidomide syndrome;   SC syndrome;   hypomelia hypotrichosis facial hemangioma syndrome;   long bone deficiencies associated with cleft lip-palate;   pseudothalidomide syndrome;   tetraphocomelia-cleft palate syndrome
 primary_id: MESH:C535687
 alt_id: DOID:0050536;   OMIM:268300
 xref: GARD:7387;   NCI:C126326;   NCI:C4681;   ORDO:3103
For additional species annotation, visit the Alliance of Genome Resources.



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Roberts syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome
OMIM
CTD
ClinVar
RGD
PMID:495649 PMID:1642282 PMID:3740099 PMID:15821733 PMID:16199547 More... RGD:11535977, RGD:11535978 NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Roberts syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                Roberts syndrome 1
paths to the root